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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Germ-Line Mutation

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Disease relevance of Germ-Line Mutation


Psychiatry related information on Germ-Line Mutation


High impact information on Germ-Line Mutation


Chemical compound and disease context of Germ-Line Mutation


Biological context of Germ-Line Mutation


Anatomical context of Germ-Line Mutation


Associations of Germ-Line Mutation with chemical compounds

  • This is the first report of a germline mutation in a member of the steroid/thyroid hormone receptor superfamily associated with the development of cancer [1].
  • Mutation rate in the Mogilev families was correlated with the level of caesium-137 surface contamination, consistent with radiation induction of germline mutation [27].
  • We generated mice harboring germline mutations in which the enhancer element located 9 kb 3' of the immunoglobulin kappa light chain gene (3'E kappa) was replaced either by a single loxP site (3'E kappa delta) or by a neomycin resistance gene (3'E kappa N) [28].
  • In this study, we developed protocols for creating N-ethyl-N-nitrosourea (ENU)-induced germline mutations in several rat strains [29].
  • We suggest that methylated CpG dinucleotides within and around the highly mutable NF1 gene serve as a reservoir within which C-->T transitions contribute to the high frequency of spontaneous germline mutations associated with the disease [30].

Gene context of Germ-Line Mutation


Analytical, diagnostic and therapeutic context of Germ-Line Mutation


  1. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D.F., Ponder, B.A., Stratton, M.R. Nat. Genet. (1992) [Pubmed]
  2. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Castilla, L.H., Couch, F.J., Erdos, M.R., Hoskins, K.F., Calzone, K., Garber, J.E., Boyd, J., Lubin, M.B., Deshano, M.L., Brody, L.C. Nat. Genet. (1994) [Pubmed]
  3. Molecular diagnosis of familial adenomatous polyposis. Powell, S.M., Petersen, G.M., Krush, A.J., Booker, S., Jen, J., Giardiello, F.M., Hamilton, S.R., Vogelstein, B., Kinzler, K.W. N. Engl. J. Med. (1993) [Pubmed]
  4. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Carpten, J., Nupponen, N., Isaacs, S., Sood, R., Robbins, C., Xu, J., Faruque, M., Moses, T., Ewing, C., Gillanders, E., Hu, P., Bujnovszky, P., Makalowska, I., Baffoe-Bonnie, A., Faith, D., Smith, J., Stephan, D., Wiley, K., Brownstein, M., Gildea, D., Kelly, B., Jenkins, R., Hostetter, G., Matikainen, M., Schleutker, J., Klinger, K., Connors, T., Xiang, Y., Wang, Z., De Marzo, A., Papadopoulos, N., Kallioniemi, O.P., Burk, R., Meyers, D., Grönberg, H., Meltzer, P., Silverman, R., Bailey-Wilson, J., Walsh, P., Isaacs, W., Trent, J. Nat. Genet. (2002) [Pubmed]
  5. Bi-allelic inactivation of TCF1 in hepatic adenomas. Bluteau, O., Jeannot, E., Bioulac-Sage, P., Marqués, J.M., Blanc, J.F., Bui, H., Beaudoin, J.C., Franco, D., Balabaud, C., Laurent-Puig, P., Zucman-Rossi, J. Nat. Genet. (2002) [Pubmed]
  6. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., Matsubara, Y. Nat. Genet. (2005) [Pubmed]
  7. The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. Eng, C. Recent Prog. Horm. Res. (1999) [Pubmed]
  8. Patterns of reduced nipple aspirate fluid production and ductal lavage cellularity in women at high risk for breast cancer. Higgins, S.A., Matloff, E.T., Rimm, D.L., Dziura, J., Haffty, B.G., King, B.L. Breast Cancer Res. (2005) [Pubmed]
  9. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Gissen, P., Johnson, C.A., Morgan, N.V., Stapelbroek, J.M., Forshew, T., Cooper, W.N., McKiernan, P.J., Klomp, L.W., Morris, A.A., Wraith, J.E., McClean, P., Lynch, S.A., Thompson, R.J., Lo, B., Quarrell, O.W., Di Rocco, M., Trembath, R.C., Mandel, H., Wali, S., Karet, F.E., Knisely, A.S., Houwen, R.H., Kelly, D.A., Maher, E.R. Nat. Genet. (2004) [Pubmed]
  10. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Drenth, J.P., te Morsche, R.H., Smink, R., Bonifacino, J.S., Jansen, J.B. Nat. Genet. (2003) [Pubmed]
  11. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., Buechner, J., Jung, A., Hählen, K., Hasle, H., Licht, J.D., Gelb, B.D. Nat. Genet. (2003) [Pubmed]
  12. Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. Vanharanta, S., Pollard, P.J., Lehtonen, H.J., Laiho, P., Sjöberg, J., Leminen, A., Aittomäki, K., Arola, J., Kruhoffer, M., Orntoft, T.F., Tomlinson, I.P., Kiuru, M., Arango, D., Aaltonen, L.A. Hum. Mol. Genet. (2006) [Pubmed]
  13. Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing. Komminoth, P., Kunz, E., Hiort, O., Schröder, S., Matias-Guiu, X., Christiansen, G., Roth, J., Heitz, P.U. Am. J. Pathol. (1994) [Pubmed]
  14. Somatic mutations of the MET oncogene are selected during metastatic spread of human HNSC carcinomas. Di Renzo, M.F., Olivero, M., Martone, T., Maffe, A., Maggiora, P., Stefani, A.D., Valente, G., Giordano, S., Cortesina, G., Comoglio, P.M. Oncogene (2000) [Pubmed]
  15. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus. Rocha, J.L., Friedman, E., Boson, W., Moreira, A., Figueiredo, B., Liberman, B., de Lacerda, L., Sandrini, R., Graf, H., Martins, S., Puñales, M.K., De Marco, L. Hum. Mutat. (1999) [Pubmed]
  16. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. Wang-Gohrke, S., Weikel, W., Risch, H., Vesprini, D., Abrahamson, J., Lerman, C., Godwin, A., Moslehi, R., Olipade, O., Brunet, J.S., Stickeler, E., Kieback, D.G., Kreienberg, R., Weber, B., Narod, S.A., Runnebaum, I.B. Br. J. Cancer (1999) [Pubmed]
  17. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Kirschner, L.S., Carney, J.A., Pack, S.D., Taymans, S.E., Giatzakis, C., Cho, Y.S., Cho-Chung, Y.S., Stratakis, C.A. Nat. Genet. (2000) [Pubmed]
  18. WT-1 is required for early kidney development. Kreidberg, J.A., Sariola, H., Loring, J.M., Maeda, M., Pelletier, J., Housman, D., Jaenisch, R. Cell (1993) [Pubmed]
  19. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Serra, E., Rosenbaum, T., Nadal, M., Winner, U., Ars, E., Estivill, X., Lázaro, C. Nat. Genet. (2001) [Pubmed]
  20. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Howe, J.R., Bair, J.L., Sayed, M.G., Anderson, M.E., Mitros, F.A., Petersen, G.M., Velculescu, V.E., Traverso, G., Vogelstein, B. Nat. Genet. (2001) [Pubmed]
  21. Targeted disruption of the trkB neurotrophin receptor gene results in nervous system lesions and neonatal death. Klein, R., Smeyne, R.J., Wurst, W., Long, L.K., Auerbach, B.A., Joyner, A.L., Barbacid, M. Cell (1993) [Pubmed]
  22. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Broeks, A., Urbanus, J.H., Floore, A.N., Dahler, E.C., Klijn, J.G., Rutgers, E.J., Devilee, P., Russell, N.S., van Leeuwen, F.E., van 't Veer, L.J. Am. J. Hum. Genet. (2000) [Pubmed]
  23. A simple p53 functional assay for screening cell lines, blood, and tumors. Flaman, J.M., Frebourg, T., Moreau, V., Charbonnier, F., Martin, C., Chappuis, P., Sappino, A.P., Limacher, I.M., Bron, L., Benhattar, J. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  24. Tumor regionality in the mouse intestine reflects the mechanism of loss of Apc function. Haigis, K.M., Hoff, P.D., White, A., Shoemaker, A.R., Halberg, R.B., Dove, W.F. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  25. Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Zhu, Y., Harada, T., Liu, L., Lush, M.E., Guignard, F., Harada, C., Burns, D.K., Bajenaru, M.L., Gutmann, D.H., Parada, L.F. Development (2005) [Pubmed]
  26. p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation. Laurikkala, J., Mikkola, M.L., James, M., Tummers, M., Mills, A.A., Thesleff, I. Development (2006) [Pubmed]
  27. Human minisatellite mutation rate after the Chernobyl accident. Dubrova, Y.E., Nesterov, V.N., Krouchinsky, N.G., Ostapenko, V.A., Neumann, R., Neil, D.L., Jeffreys, A.J. Nature (1996) [Pubmed]
  28. The Ig(kappa) enhancer influences the ratio of Ig(kappa) versus Ig(lambda) B lymphocytes. Gorman, J.R., van der Stoep, N., Monroe, R., Cogne, M., Davidson, L., Alt, F.W. Immunity (1996) [Pubmed]
  29. Production of knockout rats using ENU mutagenesis and a yeast-based screening assay. Zan, Y., Haag, J.D., Chen, K.S., Shepel, L.A., Wigington, D., Wang, Y.R., Hu, R., Lopez-Guajardo, C.C., Brose, H.L., Porter, K.I., Leonard, R.A., Hitt, A.A., Schommer, S.L., Elegbede, A.F., Gould, M.N. Nat. Biotechnol. (2003) [Pubmed]
  30. Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2. Rodenhiser, D.I., Coulter-Mackie, M.B., Singh, S.M. Hum. Mol. Genet. (1993) [Pubmed]
  31. HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. de Wind, N., Dekker, M., Claij, N., Jansen, L., van Klink, Y., Radman, M., Riggins, G., van der Valk, M., van't Wout, K., te Riele, H. Nat. Genet. (1999) [Pubmed]
  32. Mutations in SUFU predispose to medulloblastoma. Taylor, M.D., Liu, L., Raffel, C., Hui, C.C., Mainprize, T.G., Zhang, X., Agatep, R., Chiappa, S., Gao, L., Lowrance, A., Hao, A., Goldstein, A.M., Stavrou, T., Scherer, S.W., Dura, W.T., Wainwright, B., Squire, J.A., Rutka, J.T., Hogg, D. Nat. Genet. (2002) [Pubmed]
  33. A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair. Tishkoff, D.X., Filosi, N., Gaida, G.M., Kolodner, R.D. Cell (1997) [Pubmed]
  34. Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Firulli, A.B., McFadden, D.G., Lin, Q., Srivastava, D., Olson, E.N. Nat. Genet. (1998) [Pubmed]
  35. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Bourn, D., Carter, S.A., Mason, S., Gareth, D., Evans, R., Strachan, T. Hum. Mol. Genet. (1994) [Pubmed]
  36. Reciprocal expression of ERalpha and ERbeta is associated with estrogen-mediated modulation of intestinal tumorigenesis. Weyant, M.J., Carothers, A.M., Mahmoud, N.N., Bradlow, H.L., Remotti, H., Bilinski, R.T., Bertagnolli, M.M. Cancer Res. (2001) [Pubmed]
  37. Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. Stormorken, A.T., Bowitz-Lothe, I.M., Norèn, T., Kure, E., Aase, S., Wijnen, J., Apold, J., Heimdal, K., Møller, P. J. Clin. Oncol. (2005) [Pubmed]
  38. Molecular classification of breast carcinomas by comparative genomic hybridization: a specific somatic genetic profile for BRCA1 tumors. Wessels, L.F., van Welsem, T., Hart, A.A., van't Veer, L.J., Reinders, M.J., Nederlof, P.M. Cancer Res. (2002) [Pubmed]
  39. Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia. Hagemann, T.L., Rosen, F.S., Kwan, S.P. Hum. Mutat. (1995) [Pubmed]
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